Clinical and Molecular Characterization of ALG1-CDG

Abstract

Investigators from the Human Genetics Program, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, California and a large study group utilized a combination of exome sequencing, targeted gene panels, and Sanger sequencing to identify thirty-one pathogenic variants in thirty-nine affected individuals with ALG1-CDG from 32 families.

Keywords

• asparagine-linked glycosylation protein 1
• cdg
• carbohydrate-deficient transferrin